{
    "disease_id": "DOID:0080316",
    "recommended_name": {
        "id": "DOID:0080316",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080316",
        "name": "megalencephalic leukoencephalopathy with subcortical cysts 1",
        "description": "A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in the MLC1 gene on chromosome 22q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080316",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080316",
            "name": "Van Der Knaap disease",
            "description": ""
        },
        {
            "id": "DOID:0080316",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080316",
            "name": "leukoencephalopathy with swelling and cysts",
            "description": ""
        },
        {
            "id": "MONDO:0024555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024555",
            "name": "megalencephalic leukoencephalopathy with subcortical cysts 1",
            "description": ""
        },
        {
            "id": "MONDO:0024555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024555",
            "name": "megalencephalic leukoencephalopathy with subcortical cysts",
            "description": ""
        },
        {
            "id": "MONDO:0024555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024555",
            "name": "megalencephalic leukoencephalopathy with subcortical cysts 1",
            "description": ""
        },
        {
            "id": "MONDO:0024555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024555",
            "name": "MLC1",
            "description": ""
        },
        {
            "id": "MONDO:0024555",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024555",
            "name": "VL",
            "description": ""
        },
        {
            "id": "MIM:604004",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604004",
            "name": "Megalencephalic leukoencephalopathy with subcortical cysts 1",
            "description": "Megalencephalic leukoencephalopathy with subcortical cysts 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080316"
    ],
    "unlinked_id_list": []
}